Children with Hirschsprung Disease often experience problems like diarrhea and a hard time emptying their bowels. But they can live a normal life with surgery and follow up care.
Your child’s healthcare team will do several tests to find out if they have Hirschsprung Disease. These include an abdominal X-ray and a contrast enema. A suction rectal biopsy may also be done.
Diagnosis
As a baby develops in the womb, nerve cells are created throughout the digestive tract from the mouth to the large intestine (colon) and beyond. In Hirschsprung Disease, these nerve cells stop developing in a section of the bowel at the end closest to the rectum and anus. This means waste from the body can’t pass through this part of the colon and the colon swells up with blocked stool.
A child with Hirschsprung Disease may be diagnosed through a rectal biopsy. This involves taking a small piece of the colon lining to examine under a microscope for the presence of nerve cells. When these are absent, the diagnosis of Hirschsprung Disease is confirmed. This test can be done at the bedside in infants using a suction device and does not require anesthesia. In older children a surgical biopsy is performed in the operating room under general anesthesia.
X-rays of the lower digestive tract or a contrast enema can also suggest that a child has Hirschsprung Disease. However, these tests do not always provide the final diagnosis as some children who have Hirschsprung Disease can have normal x-rays and CT scans.
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In most cases, a child with Hirschsprung Disease needs surgery to remove the affected section of the colon and connect it to the anus. This is called the “pull-through” operation. Newborns and generally well children usually have this in one operation but if your child is sick, especially with enterocolitis or a severe blockage, the surgeon may decide to treat your child in 2 stages.
A child who has had a pull-through operation must be able to accept rectal irrigations (washes) with fluid to avoid episodes of enterocolitis, a life threatening condition that is more common in children with Hirschsprung disease and those who have undergone an ostomy surgery. An ostomy is an artificial opening in the rectum that connects to a tube that carries stool into the abdomen. Your doctor will talk to you about this as it is important that your child be comfortable with this procedure. In some cases, the ostomy will be temporary. In other cases, it will be permanent.
Symptoms
Children with Hirschsprung Disease have a segment of their colon and sometimes a section of the small intestine that does not have nerve cells. These nerves help the muscles in the wall of the bowel contract and relax to move digested material downstream toward the anus so it can be eliminated. When these nerves are not present, it becomes difficult for your child to pass faeces.
The condition is usually diagnosed during infancy. Newborns with the problem generally have no symptoms, but older infants can experience a range of symptoms from abdominal distension (fullness) to chronic constipation. Scientists aren’t sure why the ganglion cells in this area fail to develop, but genetic factors may be involved.
In some cases, Hirschsprung disease can cause serious intestinal infections called enterocolitis. This can be very painful and life-threatening for the child. Almost all children with Hirschsprung Disease need surgery to treat the problem. If your child is still very young and in good health, the surgeon can remove the affected segment of bowel in one operation called a ‘pull-through’. This leaves an artificial opening in the bowel (called a stoma) which allows your child to pass faeces. In older or less well children, the surgeon may create a stoma and then wait until your child’s health improves before performing a pull-through operation to remove the remaining non-functioning section of bowel.
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Some children who have Hirschsprung Disease have problems controlling their bowels (bowel incontinence). This can continue into adolescence and is very distressing for the child and family. Speak to your GP for advice about this.
Some children with Hirschsprung Disease have episodes of enterocolitis, even after they’ve had surgical treatment to correct the condition. If this happens, your child will need treatment with a antibiotic such as Flagyl (metronidazole) and rectal irrigations several times per day until the infection clears. This can be a long and unpleasant process, but it will prevent the enterocolitis from getting worse. We’ll teach you how to do bowel washouts before your child goes home.
Treatment
Before a baby is born, cells called neural crest cells migrate down the digestive tract. Hirschsprung disease occurs when these cells don’t make it to the end of the large intestine (the anus). The result is a segment of the bowel that lacks nerve cell endings and can’t empty properly.
Most children with Hirschsprung disease are diagnosed in early infancy. They usually have symptoms of constipation and fecal incontinence and may also experience diarrhea. These children often have a higher risk of developing a serious infection in the colon called enterocolitis. Enterocolitis is a life-threatening condition and needs to be treated quickly.
Children with Hirschsprung disease need to be irrigated with a special solution, such as salt water, several times a day. This helps to remove any static stool. This is a temporary measure until surgery can be performed.
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X-rays can be used to determine whether the bowel is enlarged above a blockage and if there is a bulge at the anus. Doctors can also do a barium enema, in which a dye is given through the rectum to make the colon show up better on a scan and check for abnormal areas. Other tests that can be done include a rectal biopsy (removing a sample of bowel tissue to check for ganglia), anorectal manometry (in which a small balloon is inserted in the rectum to measure the pressures in the internal and external sphincter), and surgical biopsy (which involves inserting a needle into the anus to take a piece of the colon).
The most effective treatment for Hirschsprung disease is surgical removal of the portion of the intestine without nerve cells. Pull-through surgery is typically performed when a child is about two years old. A preadmission appointment will be scheduled shortly before the operation so that a doctor can check that your child’s bowel is ready for surgery.
After surgery, most children with Hirschsprung disease can pass normal stool. However, some may have recurrent episodes of abdominal distension. If this happens, a doctor can perform rectal irrigations at home with fluid placed into the colon through a tube.
Prevention
The cause of Hirschsprung disease is not completely understood. We know that genes play a role, but we do not understand why some babies are born with the condition. Some environmental factors, such as the health and diet of a mother during pregnancy, may also be linked to the risk of Hirschsprung disease. However, most cases of the condition are due to genetics.
During the first trimester of pregnancy, precursor cells that form the enteric nervous system begin to colonize the entire intestine. If the intestine does not get enough of these cells, it is more likely to develop Hirschsprung disease. The cells that colonize the intestine must mature into specialized nerve cells called enteric neurons and support cells called glia to work correctly.
If a child does not have enough of these cells, stool cannot pass through the large intestine properly. This can lead to constipation, pain and swelling of the abdomen. Children with this problem usually feel better after surgery, but some still have bowel problems in early childhood or into adulthood.
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Most infants with Hirschsprung disease have symptoms within the first few days or weeks of life. The severity of these symptoms depends on how much of the intestine is affected. Babies with a short segment of the intestine may not have any symptoms, while those with longer segments will become sick quickly.
Some children with Hirschsprung disease will need a type of surgery called an ileostomy to treat their symptoms. During this procedure, surgeons remove the part of the large intestine that does not have nerve cells and connect it to the anal opening. The surgeon will make an opening in the belly (anal stoma). Stool passes through this opening into a bag worn outside of the body, which must be emptied several times a day.
In some cases, children who are very ill with Hirschsprung disease will need a surgical procedure called a pull-through surgery before they can have ostomy surgery. During this procedure, surgeons will connect the end of the healthy intestine to the anal opening and sew it shut.
